Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 602656 MIM: 606553 MIM: 191092 | ||||||||||||||||||||||||||||||||
Literature Links: |
NTHL1 PubMed Links | ||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU)
|
|||
EAS - Not Available | African American - Not Available | YRI (Yoruba)
|
|||
SAS - Not Available | Chinese - Not Available | JPT (Japanese)
|
|||
AFR - Not Available | Japanese - Not Available | CHB (Han Chinese)
|
|||
EUR - Not Available | |||||
AMR - Not Available |
NTHL1 - nth-like DNA glycosylase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318193.1 | 740 | Missense Mutation | GAC,TAC | D,Y 182 | NP_001305122.1 | |
NM_001318194.1 | 740 | Missense Mutation | GAC,TAC | D,Y 121 | NP_001305123.1 | |
NM_002528.6 | 740 | Missense Mutation | GAC,TAC | D,Y 239 | NP_002519.1 | |
XM_017023253.1 | 740 | Missense Mutation | GAC,TAC | D,Y 239 | XP_016878742.1 |
SLC9A3R2 - SLC9A3 regulator 2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
TSC2 - tuberous sclerosis 2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
Set Membership: |
HapMap |